Detalhe da pesquisa
1.
Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.
Prenat Diagn
; 42(13): 1627-1635, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36403094
2.
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Hum Genet
; 140(1): 43-57, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33108537
3.
Disrupted filamin A/αIIbß3 interaction induces macrothrombocytopenia by increasing RhoA activity.
Blood
; 133(16): 1778-1788, 2019 04 18.
Artigo
Inglês
| MEDLINE | ID: mdl-30602618
4.
Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion.
Am J Med Genet A
; 185(5): 1494-1497, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33522073
5.
Chromosomal translocations and semen quality: A study on 144 male translocation carriers.
Reprod Biomed Online
; 38(1): 46-55, 2019 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-30518499
6.
Superoxide dismutase 2 (SOD2) contributes to genetic stability of native and T315I-mutated BCR-ABL expressing leukemic cells.
Biochem Biophys Res Commun
; 498(4): 715-722, 2018 04 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29550484
7.
Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia.
Blood
; 125(6): 930-40, 2015 Feb 05.
Artigo
Inglês
| MEDLINE | ID: mdl-25490895
8.
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
Am J Med Genet A
; 173(6): 1690-1693, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28398607
9.
Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.
Birth Defects Res A Clin Mol Teratol
; 106(4): 298-303, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26931099
10.
Human embryonic stem cell-derived cardiac progenitors for severe heart failure treatment: first clinical case report.
Eur Heart J
; 36(30): 2011-7, 2015 Aug 07.
Artigo
Inglês
| MEDLINE | ID: mdl-25990469
11.
Towards a clinical use of human embryonic stem cell-derived cardiac progenitors: a translational experience.
Eur Heart J
; 36(12): 743-50, 2015 Mar 21.
Artigo
Inglês
| MEDLINE | ID: mdl-24835485
12.
Small Supernumerary Marker Chromosomes in Human Infertility.
Cytogenet Genome Res
; 146(2): 100-8, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26398339
13.
Integration-deficient lentivectors: an effective strategy to purify and differentiate human embryonic stem cell-derived hepatic progenitors.
BMC Biol
; 11: 86, 2013 Jul 19.
Artigo
Inglês
| MEDLINE | ID: mdl-23870169
14.
Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene.
Stem Cell Res
; 76: 103338, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38354647
15.
Critical contribution of mitochondria in the development of cardiomyopathy linked to desmin mutation.
Stem Cell Res Ther
; 15(1): 10, 2024 01 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38167524
16.
KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas.
Eur J Endocrinol
; 190(2): 173-181, 2024 Feb 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38330165
17.
Risk of tumorigenicity in mesenchymal stromal cell-based therapies--bridging scientific observations and regulatory viewpoints.
Cytotherapy
; 15(7): 753-9, 2013 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-23602595
18.
An early onset benign myopathy with glycogen storage caused by a de novo 1.4 Mb-deletion of chromosome 14.
Neuromuscul Disord
; 33(10): 817-821, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37743183
19.
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development.
Hum Reprod
; 27(5): 1460-5, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22416012
20.
Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations.
Am J Med Genet A
; 158A(4): 894-900, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22419357